Table 1 Characteristics of 6 patients... | American Society of Hematology

Table 1

Characteristics of 6 patients with GATA2 deficiency receiving HSCT

Patient no.	Age at HSCT, y/sex	Duration illness, y	Type of infection			Affected cell lineage				Mutation	Family history
Patient no.	Age at HSCT, y/sex	Duration illness, y	NTM	Viral	Other	CD14	CD19	NK	CD3	Mutation	Family history
1	33/M	10	Disseminated MAC	Skin/genital HPV*	Invasive Aspergillosis in the leg	↓↓↓	↓↓	↓↓	Normal	c.243_244 delAinsGC G81GfsX103	None
2	46/F	9	Disseminated MAC and M scrofulaceum	Skin HPV	Disseminated Aspergillosis	↓↓↓	↓↓↓	↓↓↓	↓	c.1192 C>T R398W	Sister died 31-yo HSCT for CMML; mother died 54-yo CMML
3	33/M	1	Disseminated MAC	Skin HPV; Molluscum contagiosum		↓↓↓	↓↓↓	↓↓↓	↓	c.1192 C>T R398W	Mother died 32-yo AML
4	23/F	8	Disseminated M abscessus		Disseminated nocardiosis	↓↓↓	↓↓↓	↓↓↓	Normal	c.1187 G>A R396Q	None
5	41/F	8	Disseminated MAC and M abscessus	Skin/genital HPV†		↓↓↓	↓↓	↓↓↓	↓	c.1061 C>T T354M	Son died age 19 AML
6	15/M	2	Disseminated MAC	Skin HPV	S sanguinis osteomyelitis; C difficile toxic megacolon	↓↓↓	↓↓↓	↓↓↓	↓	c.778_779 ins 10bp Y260CfsX24	None

Patient no.	Age at HSCT, y/sex	Duration illness, y	Type of infection			Affected cell lineage				Mutation	Family history
Patient no.	Age at HSCT, y/sex	Duration illness, y	NTM	Viral	Other	CD14	CD19	NK	CD3	Mutation	Family history
1	33/M	10	Disseminated MAC	Skin/genital HPV*	Invasive Aspergillosis in the leg	↓↓↓	↓↓	↓↓	Normal	c.243_244 delAinsGC G81GfsX103	None
2	46/F	9	Disseminated MAC and M scrofulaceum	Skin HPV	Disseminated Aspergillosis	↓↓↓	↓↓↓	↓↓↓	↓	c.1192 C>T R398W	Sister died 31-yo HSCT for CMML; mother died 54-yo CMML
3	33/M	1	Disseminated MAC	Skin HPV; Molluscum contagiosum		↓↓↓	↓↓↓	↓↓↓	↓	c.1192 C>T R398W	Mother died 32-yo AML
4	23/F	8	Disseminated M abscessus		Disseminated nocardiosis	↓↓↓	↓↓↓	↓↓↓	Normal	c.1187 G>A R396Q	None
5	41/F	8	Disseminated MAC and M abscessus	Skin/genital HPV†		↓↓↓	↓↓	↓↓↓	↓	c.1061 C>T T354M	Son died age 19 AML
6	15/M	2	Disseminated MAC	Skin HPV	S sanguinis osteomyelitis; C difficile toxic megacolon	↓↓↓	↓↓↓	↓↓↓	↓	c.778_779 ins 10bp Y260CfsX24	None

NTM indicates nontuberculous mycobacterial infection; MAC, M avium complex; HPV, human papilloma virus; CMML, chronic myelomonocytic leukemia; yo, year old; and AML, acute myelogenous leukemia.

Patient 1 developed in situ squamous cell carcinoma of oral commissure with cytopathic changes secondary to HPV.

†

Patient 5 developed cervical carcinoma during adolescence requiring hysterectomy at 19 years of age.

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